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Items: 1 to 20 of 90

1.

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Carvalho RS, Abreu RB, Velkova A, Marsillac S, Rodarte RS, Suarez-Kurtz G, Iversen ES, Monteiro AN, Carvalho MA.

PLoS One. 2014 May 20;9(5):e97766. doi: 10.1371/journal.pone.0097766. eCollection 2014.

2.

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab, Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD.

Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20.

3.

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN.

Cancer Res. 2010 Jun 15;70(12):4880-90. doi: 10.1158/0008-5472.CAN-09-4563. Epub 2010 Jun 1.

4.

Functional and structural analysis of C-terminal BRCA1 missense variants.

Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C.

PLoS One. 2013 Apr 17;8(4):e61302. doi: 10.1371/journal.pone.0061302. Print 2013.

5.

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

6.

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium.

J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2.

7.

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN.

Cancer Res. 2007 Feb 15;67(4):1494-501.

8.

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.

Iofrida C, Melissari E, Mariotti V, Guglielmi C, Guidugli L, Caligo MA, Pellegrini S.

BMC Cancer. 2012 May 30;12:207. doi: 10.1186/1471-2407-12-207.

9.

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.

De Nicolo A, Parisini E, Zhong Q, Dalla Palma M, Stoeckert KA, Domchek SM, Nathanson KL, Caligo MA, Vidal M, Cusick ME, Garber JE.

Cancer Res. 2009 Sep 1;69(17):7030-7. doi: 10.1158/0008-5472.CAN-09-1440. Epub 2009 Aug 25.

10.

Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets.

Drikos I, Nounesis G, Vorgias CE.

Proteins. 2009 Nov 1;77(2):464-76. doi: 10.1002/prot.22460.

PMID:
19452558
11.

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30.

12.

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B.

Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17.

13.

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators.

J Med Genet. 2006 Jan;43(1):74-83. Epub 2005 May 27.

14.

Toward classification of BRCA1 missense variants using a biophysical approach.

Rowling PJ, Cook R, Itzhaki LS.

J Biol Chem. 2010 Jun 25;285(26):20080-7. doi: 10.1074/jbc.M109.088922. Epub 2010 Apr 8.

15.

Structural basis to characterise transactivation domain of BRCA1.

Yadav LR, Biswal MN, Hosur MV, Kumar NS, Varma AK.

J Biomol Struct Dyn. 2017 Jan;35(1):1-7. doi: 10.1080/07391102.2015.1136896. Epub 2016 Mar 1.

PMID:
26727155
16.

Classification of BRCA1 missense variants of unknown clinical significance.

Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.

J Med Genet. 2005 Feb;42(2):138-46.

17.

A guide for functional analysis of BRCA1 variants of uncertain significance.

Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group.

Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Epub 2012 Jul 16. Review.

18.

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.

Cancer Res. 2004 Jun 1;64(11):3790-7.

19.
20.

Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

Coquelle N, Green R, Glover JN.

Biochemistry. 2011 May 31;50(21):4579-89. doi: 10.1021/bi2003795. Epub 2011 May 10.

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